Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site variant alongside a novel constitutional variant.

Casitas B-cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL-mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL-mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant.

Arsenic-induced neurotoxicity in patients with acute promyelocytic leukaemia.

Arsenic trioxide is an essential component of therapy for acute promyelocytic leukaemia (APL) and is currently dosed on actual body weight with no upper limit. Arsenic-induced neurotoxicity is a well-recognised complication; however, there is uncertainty about its relationship to arsenic dose and obesity. We conducted a large multicentre retrospective study of 487 patients with APL treated with arsenic-based therapy across 23 sites in Australia from 2008 to 2023.

The Current Role of Platelet Function Testing in Clinical Practice.

Platelet dysfunction, whether hereditary or acquired, may increase an individual's risk of spontaneous, posttraumatic, or postoperative bleeding. Conversely, increased platelet reactivity on antiplatelet agents following vascular (in particular, coronary vascular) intervention may increase the risk of thrombosis and adverse vascular events. The aim of platelet function testing is to identify and characterize platelet dysfunction in these settings to inform bleeding/ thrombosis risk and guide perioperative prophylactic management strategies.

Addition of sodium alginate and pectin to a carbohydrate-electrolyte solution does not influence substrate oxidation, gastrointestinal comfort, or cycling performance.

Eight well-trained cyclists ingested 68 g·h of a carbohydrate-electrolyte solution with sodium alginate and pectin (CHO-ALG) or a taste and carbohydrate type-matched carbohydrate-electrolyte solution (CHO) during 120 min of cycling at 55% maximal power followed by an ∼20 min time trial. Oxygen uptake, carbon dioxide production, blood glucose concentration, substrate oxidation, gastrointestinal symptoms, and time trial performance (CHO-ALG: 1219 ± 84 s, CHO: 1267 ± 102 s; = 0.185) were not different between trials.